Results 121 to 130 of about 11,713 (255)

Flow Cytometry Measurement of Glucocerebrosidase Activity in Human Monocytes [PDF]

, 2020
Laura P. Hughes, Glenda M. Halliday, Nicolas Dzamko   +2 more
openalex   +1 more source

The physiological and pathological effects of sphingolipid metabolism and signaling in the central nervous system

Brain Pathology, Volume 36, Issue 1, January 2026.
Sphingolipids are vital components of cell membranes. Metabolic disruptions of sphingolipids, including ceramide and sphingosine‐1‐phosphate, are linked to neurological disorders. This article summarizes the classification, structure, and metabolic processes of sphingolipids, and the physiological and pathological effects of sphingolipid metabolism and
Tian Li, Haoying He, Ejuan Zhang, Fengjiao Hu, Zhuo Wang, Jian Xu, Mengliu Zeng, Biwen Peng   +7 more
wiley   +1 more source

A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease

Disease Models & Mechanisms, 2016
Glucocerebrosidase is a lysosomal hydrolase involved in the breakdown of glucosylceramide. Gaucher disease, a recessive lysosomal storage disorder, is caused by mutations in the gene GBA1.
Wendy Westbroek, Matthew Nguyen, Marina Siebert, Taylor Lindstrom, Robert A. Burnett, Elma Aflaki, Olive Jung, Rafael Tamargo, Jorge L. Rodriguez-Gil, Walter Acosta, An Hendrix, Bahafta Behre, Nahid Tayebi, Hideji Fujiwara, Rohini Sidhu, Benoit Renvoise, Edward I. Ginns, Amalia Dutra, Evgenia Pak, Carole Cramer, Daniel S. Ory, William J. Pavan, Ellen Sidransky   +22 more
doaj   +1 more source

Protein engineering strategies to optimise recombinant product synthesis and accumulation in Nicotiana benthamiana

Plant Biotechnology Journal, Volume 24, Issue 1, Page 31-43, January 2026.
Summary In plant molecular farming, recombinant products include traditional protein targets, such as antibodies, antigens, and enzymes, but also increasingly refers to high‐value peptides, and small molecules produced by heterologous enzymatic pathways.
Maxim D. Harding, Frank Sainsbury
wiley   +1 more source

Progranulin mutations result in impaired processing of prosaposin and reduced glucocerebrosidase activity.

Human Molecular Genetics, 2019
Frontotemporal dementia (FTD) is a common neurogenerative disorder characterized by neurodegeneration in the frontal and temporal lobes. Heterozygous mutations in the gene encoding progranulin (PGRN) are a common genetic cause of FTD.
Clarissa Valdez, Daniel Ysselstein, Tiffany J. Young, Jianbin Zheng, D. Krainc   +4 more
semanticscholar   +1 more source

Protein‐Derived Signal Peptides Induced by Agrobacterium Infection Promote the Secretion of Recombinant Proteins in Nicotiana benthamiana

Plant Biotechnology Journal, Volume 24, Issue 1, Page 187-203, January 2026.
ABSTRACT Plants are promising next‐generation hosts for recombinant protein production; however, major challenges remain with regard to enhancing the efficiency of downstream processing, particularly in the removal of cellular residues and purification of the expressed proteins.
Hiroyuki Kajiura, Kana Yamamoto, Ryo Misaki, Kazuhito Fujiyama   +3 more
wiley   +1 more source

Progranulin deficiency leads to reduced glucocerebrosidase activity

bioRxiv, 2019
Mutation in the GRN gene, encoding the progranulin (PGRN) protein, shows a dose-dependent disease correlation, wherein haploinsufficiency results in frontotemporal lobar degeneration (FTLD) and complete loss results in neuronal ceroid lipofuscinosis (NCL)
Xiaolai Zhou, Daniel H. Paushter, Mitchell D. Pagan, Dongsung Kim, R. Lieberman, H. Overkleeft, Ying Sun, M. Smolka, Fenghua Hu   +8 more
semanticscholar   +1 more source

Next-Generation Sequencing Analysis of GBA1: The Challenge of Detecting Complex Recombinant Alleles

Frontiers in Genetics, 2021
Elizabeth G. Woo, Nahid Tayebi, Ellen Sidransky   +2 more
doaj   +1 more source

Estudo da doença de Gaucher em Santa Catarina Study of Gaucher disease in Santa Catarina

Revista Brasileira de Hematologia e Hemoterapia, 2008
A doença de Gaucher (DG) foi a primeira doença de armazenamento lisossomal descrita e a mais encontrada. Caracteriza-se pela deficiência hereditária da atividade da enzima lisossomal glucocerebrosidase, que bloqueia o metabolismo do glicocerebrosídeo.
Jovino S. Ferreira, Vera Lúcia P. C. Ferreira, David C. Ferreira   +2 more
doaj   +1 more source

Author Correction: Engineering monocyte/macrophage−specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing [PDF]

, 2020
Samantha G. Scharenberg, Édina Poletto, Katherine L. Lucot, Pasqualina Colella, Adam Sheikali, Thomas J. Montine, Matthew H. Porteus, Natalia Gomez‐Ospina   +7 more
openalex   +1 more source